Lingual-Facial-Buccal Dyskinesia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lingual-Facial-Buccal Dyskinesia

MalaCards integrated aliases for Lingual-Facial-Buccal Dyskinesia:

Name: Lingual-Facial-Buccal Dyskinesia ¹² ¹⁵ ⁷³

Oro-Facial Dyskinesia ¹²

Orofacial Dyskinesia ²⁹

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Extrapyramidal and movement disorders

Dystonia

Idiopathic orofacial dystonia

External Ids:

Disease Ontology ¹² DOID:9854

ICD10 ³³ G24.4

ICD9CM ³⁵ 333.82

MeSH ⁴⁴ D009069

SNOMED-CT ⁶⁸ 155007009 192861006 267689009 more

UMLS ⁷³ C0152115

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Summaries for Lingual-Facial-Buccal Dyskinesia

MalaCards based summary : Lingual-Facial-Buccal Dyskinesia, also known as oro-facial dyskinesia, is related to tardive dyskinesia and dyskinesia, limb and orofacial, infantile-onset, and has symptoms including spasmodic torticollis An important gene associated with Lingual-Facial-Buccal Dyskinesia is VPS13A (Vacuolar Protein Sorting 13 Homolog A), and among its related pathways/superpathways are Peptide ligand-binding receptors and Amphetamine addiction. Related phenotypes are behavior/neurological and nervous system

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Related Diseases for Lingual-Facial-Buccal Dyskinesia

Diseases related to Lingual-Facial-Buccal Dyskinesia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	tardive dyskinesia	11.5
2	dyskinesia, limb and orofacial, infantile-onset	11.3
3	spinocerebellar ataxia 27	11.0
4	myopathy with extrapyramidal signs	11.0
5	choreatic disease	10.2	KEL VPS13A
6	choreoacanthocytosis	10.2	KEL VPS13A
7	schizophrenia	9.8
8	personality disorder	9.6	DRD3 HTR2C
9	disease of mental health	9.6	DRD3 HTR2C
10	mood disorder	9.5	DRD3 HTR2C
11	psychotic disorder	9.4	DRD3 HTR2C
12	obsessive-compulsive disorder	9.3	DRD3 HTR2C
13	migraine with or without aura 1	9.1	DRD3 HTR2C

Graphical network of the top 20 diseases related to Lingual-Facial-Buccal Dyskinesia:

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Symptoms & Phenotypes for Lingual-Facial-Buccal Dyskinesia

UMLS symptoms related to Lingual-Facial-Buccal Dyskinesia:

spasmodic torticollis

MGI Mouse Phenotypes related to Lingual-Facial-Buccal Dyskinesia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.5	VPS13A DRD3 GRIN3A GRIN3B HTR2C KEL
2	nervous system	MP:0003631	9.1	VPS13A DRD3 GRIN3A HTR2C KEL SLC20A2

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Drugs & Therapeutics for Lingual-Facial-Buccal Dyskinesia

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders	Recruiting	NCT02252380	Not Applicable
2	Effect of tDCS on Cognition, Symptoms in Chronic Schizophrenia Patients With Tardive Dyskinesia	Recruiting	NCT03497013	Not Applicable

Search NIH Clinical Center for Lingual-Facial-Buccal Dyskinesia

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Genetic Tests for Lingual-Facial-Buccal Dyskinesia

Genetic tests related to Lingual-Facial-Buccal Dyskinesia:

#	Genetic test	Affiliating Genes
1	Orofacial Dyskinesia ²⁹

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Anatomical Context for Lingual-Facial-Buccal Dyskinesia

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Publications for Lingual-Facial-Buccal Dyskinesia

Articles related to Lingual-Facial-Buccal Dyskinesia:

#	Title	Authors	Year
1	Observations on the effect of levodopa on tardive lingual-facial-buccal dyskinesia. ( 5112211 )	Klawans H.L....Mckendall R.R.	1971

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Genes for Lingual-Facial-Buccal Dyskinesia

Genes related to Lingual-Facial-Buccal Dyskinesia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	VPS13A	Vacuolar Protein Sorting 13 Homolog A	Protein Coding	16.3	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	KEL	Kell Metallo-Endopeptidase (Kell Blood Group)	Protein Coding	15.96	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	DRD3	Dopamine Receptor D3	Protein Coding	15.86	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	GRIN3B	Glutamate Ionotropic Receptor NMDA Type Subunit 3B	Protein Coding	15.8	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	SLC20A2	Solute Carrier Family 20 Member 2	Protein Coding	15.74	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	HTR2C	5-Hydroxytryptamine Receptor 2C	Protein Coding	15.68	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	GRIN3A	Glutamate Ionotropic Receptor NMDA Type Subunit 3A	Protein Coding	15.48	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Lingual-Facial-Buccal Dyskinesia

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Expression for Lingual-Facial-Buccal Dyskinesia

Search GEO for disease gene expression data for Lingual-Facial-Buccal Dyskinesia.

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Pathways for Lingual-Facial-Buccal Dyskinesia

Pathways related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Peptide ligand-binding receptors ⁶⁶ Show member pathways Class A/1 (Rhodopsin-like receptors) ⁶⁶ Defective AVP causes neurohypophyseal diabetes insipidus (NDI) ⁶⁶ Formyl peptide receptors bind formyl peptides and many other ligands ⁶⁶ G alpha (i) signalling events ⁶⁶ GPCR ligand binding ⁶⁶ GPCRs, Class A Rhodopsin-like ¹ Neuroactive ligand-receptor interaction ³⁷ Orexin and neuropeptides FF and QRFP bind to their respective receptors ⁶⁶ Peptide GPCRs ¹ Tachykinin receptors bind tachykinins ⁶⁶ Vasopressin-like receptors ⁶⁶	12.62	DRD3 GRIN3A GRIN3B HTR2C KEL
2	Amphetamine addiction ³⁷ Show member pathways Cocaine addiction ³⁷	11.44	GRIN3A GRIN3B
3	Monoamine GPCRs ¹ Show member pathways Adrenaline signalling through Alpha-2 adrenergic receptor ⁶⁶ Adrenoceptors ⁶⁶ Amine ligand-binding receptors ⁶⁶ Dopamine receptors ⁶⁶ Histamine receptors ⁶⁶ Muscarinic acetylcholine receptors ⁶⁶ Serotonin receptors ⁶⁶	11.38	DRD3 HTR2C
4	Amyotrophic lateral sclerosis (ALS) ¹ ³⁷ Show member pathways Pathogenesis of ALS ⁶⁴	11.31	GRIN3A GRIN3B
5	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	11.16	DRD3 GRIN3A GRIN3B
6	Nicotine addiction ³⁷	10.76	GRIN3A GRIN3B

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GO Terms for Lingual-Facial-Buccal Dyskinesia

Cellular components related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.43	DRD3 GRIN3A GRIN3B HTR2C KEL SLC20A2
2	NMDA selective glutamate receptor complex	GO:0017146	8.62	GRIN3A GRIN3B

Biological processes related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.63	GRIN3A GRIN3B SLC20A2
2	calcium ion transmembrane transport	GO:0070588	9.43	GRIN3A GRIN3B
3	response to ethanol	GO:0045471	9.4	DRD3 GRIN3A
4	excitatory postsynaptic potential	GO:0060079	9.37	GRIN3A GRIN3B
5	social behavior	GO:0035176	9.32	DRD3 VPS13A
6	ionotropic glutamate receptor signaling pathway	GO:0035235	9.26	GRIN3A GRIN3B
7	prepulse inhibition	GO:0060134	9.16	DRD3 GRIN3A
8	cellular calcium ion homeostasis	GO:0006874	9.13	DRD3 HTR2C KEL
9	locomotory behavior	GO:0007626	8.8	DRD3 HTR2C VPS13A

Molecular functions related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium channel activity	GO:0005262	9.37	GRIN3A GRIN3B
2	drug binding	GO:0008144	9.32	DRD3 HTR2C
3	neurotransmitter receptor activity	GO:0030594	9.26	GRIN3B HTR2C
4	ionotropic glutamate receptor activity	GO:0004970	9.16	GRIN3A GRIN3B
5	extracellularly glutamate-gated ion channel activity	GO:0005234	8.96	GRIN3A GRIN3B
6	glycine binding	GO:0016594	8.62	GRIN3A GRIN3B

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Sources for Lingual-Facial-Buccal Dyskinesia

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